X‐linked intellectual disability update 2017
G Neri, CE Schwartz, HA Lubs… - American journal of …, 2018 - Wiley Online Library
The X‐chromosome comprises only about 5% of the human genome but accounts for about
15% of the genes currently known to be associated with intellectual disability. The early …
15% of the genes currently known to be associated with intellectual disability. The early …
Modelling autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) using mice and zebrafish
Autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) are two
debilitating neurodevelopmental disorders. The former is associated with social impairments …
debilitating neurodevelopmental disorders. The former is associated with social impairments …
[PDF][PDF] Dissecting the causal mechanism of X-linked dystonia-parkinsonism by integrating genome and transcriptome assembly
Summary X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative
disease that is endemic to the Philippines and is associated with a founder haplotype. We …
disease that is endemic to the Philippines and is associated with a founder haplotype. We …
Genetics of intellectual disability in consanguineous families
Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …
disability (ID) in countries with frequent parental consanguinity, which account for about …
Update on the genetics of dystonia
Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of
dystonia has rapidly grown in recent years, which led to the discovery of a number of novel …
dystonia has rapidly grown in recent years, which led to the discovery of a number of novel …
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
X-linked dystonia-parkinsonism is a neurodegenerative disorder caused by a founder
retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for~ 50 …
retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for~ 50 …
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing
F Martínez, A Caro-Llopis, M Roselló, S Oltra… - Journal of medical …, 2017 - jmg.bmj.com
Background Intellectual disability is a very complex condition where more than 600 genes
have been reported. Due to this extraordinary heterogeneity, a large proportion of patients …
have been reported. Due to this extraordinary heterogeneity, a large proportion of patients …
Zebrafish as a model of neurodevelopmental disorders
Neurodevelopmental disorders (NDDs) caused by aberrant brain growth and development
are life-long, debilitating illnesses that markedly impair the quality of life. Animal models are …
are life-long, debilitating illnesses that markedly impair the quality of life. Animal models are …
Recent advances on small-molecule bromodomain-containing histone acetyltransferase inhibitors
M Liu, K Zhang, Q Li, H Pang, Z Pan… - Journal of Medicinal …, 2023 - ACS Publications
In recent years, substantial research has been conducted on molecular mechanisms and
inhibitors targeting bromodomains (BRDs) and extra-terminal (BET) family proteins. On this …
inhibitors targeting bromodomains (BRDs) and extra-terminal (BET) family proteins. On this …
[HTML][HTML] Function over form: modeling groups of inherited neurological conditions in zebrafish
RA Kozol, AJ Abrams, DM James, E Buglo… - Frontiers in molecular …, 2016 - frontiersin.org
Zebrafish are a unique cell to behavior model for studying the basic biology of human
inherited neurological conditions. Conserved vertebrate genetics and optical transparency …
inherited neurological conditions. Conserved vertebrate genetics and optical transparency …